Mutagenetix > Incidental Mutations

Incidental Mutation 'R3276:Itgad'

475828

Institutional Source

Beutler Lab

Gene Symbol

Itgad

Ensembl Gene

ENSMUSG00000070369

Gene Name

integrin, alpha D

Synonyms

Cd11d

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R3276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128154376-128223816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128190981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 651 (H651N)

Ref Sequence

ENSEMBL: ENSMUSP00000033051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033051] [ENSMUST00000106237] [ENSMUST00000177111]

AlphaFold

Q3V0T4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033051
AA Change: H651N

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: H651N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Int_alpha	38	88	1.35e1	SMART
VWA	155	376	1.24e-36	SMART
Blast:VWA	405	436	1e-9	BLAST
Int_alpha	443	492	3.67e-3	SMART
Int_alpha	496	553	1.03e-6	SMART
Int_alpha	559	615	1.73e-13	SMART
Int_alpha	622	676	1.69e-2	SMART
transmembrane domain	1142	1164	N/A	INTRINSIC
Pfam:Integrin_alpha	1165	1179	1.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106237
AA Change: H617N

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: H617N

Domain	Start	End	E-Value	Type
Int_alpha	40	90	1.35e1	SMART
VWA	157	342	1.31e-44	SMART
Blast:VWA	371	402	9e-10	BLAST
Int_alpha	409	458	3.67e-3	SMART
Int_alpha	462	519	1.03e-6	SMART
Int_alpha	525	581	1.73e-13	SMART
Int_alpha	588	642	1.69e-2	SMART
transmembrane domain	1108	1130	N/A	INTRINSIC
Pfam:Integrin_alpha	1131	1145	4.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177111
AA Change: H615N

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: H615N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Int_alpha	38	88	1.35e1	SMART
VWA	155	340	1.31e-44	SMART
Blast:VWA	369	400	9e-10	BLAST
Int_alpha	407	456	3.67e-3	SMART
Int_alpha	460	517	1.03e-6	SMART
Int_alpha	523	579	1.73e-13	SMART
Int_alpha	586	640	1.69e-2	SMART
transmembrane domain	1106	1128	N/A	INTRINSIC
Pfam:Integrin_alpha	1129	1143	5.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205646

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice exhibit a reduced staphylococcal enterotoxin-induced T cell response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Eogt	T	A	6: 97,131,394	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998		probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,009,404		probably benign	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Ranbp1	T	C	16: 18,247,429		probably benign	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Itgad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Itgad	APN	7	128203850	missense	probably damaging	0.99
IGL02036:Itgad	APN	7	128189821	missense	possibly damaging	0.49
IGL02589:Itgad	APN	7	128181711	missense	probably damaging	1.00
IGL02648:Itgad	APN	7	128183374	intron	probably benign
IGL02735:Itgad	APN	7	128193716	missense	probably damaging	1.00
IGL03088:Itgad	APN	7	128203032	missense	probably benign	0.01
IGL03110:Itgad	APN	7	128185985	missense	probably damaging	1.00
BB007:Itgad	UTSW	7	128183108	missense	probably benign	0.01
BB017:Itgad	UTSW	7	128183108	missense	probably benign	0.01
R0060:Itgad	UTSW	7	128202986	missense	probably damaging	1.00
R0060:Itgad	UTSW	7	128202986	missense	probably damaging	1.00
R0184:Itgad	UTSW	7	128189231	missense	probably benign	0.02
R0211:Itgad	UTSW	7	128204641	missense	probably damaging	1.00
R0211:Itgad	UTSW	7	128204641	missense	probably damaging	1.00
R0282:Itgad	UTSW	7	128189978	splice site	probably benign
R0326:Itgad	UTSW	7	128198378	missense	probably benign	0.00
R0646:Itgad	UTSW	7	128174004	missense	possibly damaging	0.89
R0947:Itgad	UTSW	7	128175693	missense	probably benign	0.08
R1439:Itgad	UTSW	7	128183006	missense	probably benign	0.44
R1454:Itgad	UTSW	7	128192137	missense	probably benign	0.02
R1503:Itgad	UTSW	7	128198121	missense	probably benign	0.00
R1531:Itgad	UTSW	7	128178370	missense	probably benign	0.00
R1572:Itgad	UTSW	7	128203234	missense	probably damaging	1.00
R1602:Itgad	UTSW	7	128190939	missense	probably damaging	1.00
R1732:Itgad	UTSW	7	128205107	missense	probably benign
R2278:Itgad	UTSW	7	128205170	missense	possibly damaging	0.93
R2851:Itgad	UTSW	7	128204560	missense	probably benign	0.01
R3029:Itgad	UTSW	7	128178371	missense	possibly damaging	0.85
R3080:Itgad	UTSW	7	128185787	missense	possibly damaging	0.48
R3150:Itgad	UTSW	7	128190981	missense	possibly damaging	0.64
R3176:Itgad	UTSW	7	128190981	missense	possibly damaging	0.64
R3177:Itgad	UTSW	7	128190981	missense	possibly damaging	0.64
R3277:Itgad	UTSW	7	128190981	missense	possibly damaging	0.64
R3833:Itgad	UTSW	7	128186233	missense	probably damaging	1.00
R4541:Itgad	UTSW	7	128198115	missense	probably benign	0.13
R4649:Itgad	UTSW	7	128189531	missense	probably benign	0.01
R4753:Itgad	UTSW	7	128223703	makesense	probably null
R4852:Itgad	UTSW	7	128198530	missense	probably damaging	1.00
R4931:Itgad	UTSW	7	128204625	missense	probably damaging	1.00
R4970:Itgad	UTSW	7	128189843	missense	possibly damaging	0.70
R5116:Itgad	UTSW	7	128203893	missense	probably damaging	1.00
R5183:Itgad	UTSW	7	128198223	critical splice donor site	probably null
R5233:Itgad	UTSW	7	128193428	splice site	probably null
R5334:Itgad	UTSW	7	128189286	missense	probably damaging	0.99
R5731:Itgad	UTSW	7	128198554	missense	probably benign	0.19
R5760:Itgad	UTSW	7	128203365	missense	probably benign	0.02
R5896:Itgad	UTSW	7	128174016	missense	probably benign	0.34
R5955:Itgad	UTSW	7	128189481	missense	probably benign	0.00
R6247:Itgad	UTSW	7	128185787	missense	possibly damaging	0.48
R6659:Itgad	UTSW	7	128185948	missense	probably damaging	1.00
R7027:Itgad	UTSW	7	128182989	missense	probably damaging	1.00
R7104:Itgad	UTSW	7	128198378	missense	probably benign	0.00
R7120:Itgad	UTSW	7	128173974	start codon destroyed	probably null	0.02
R7272:Itgad	UTSW	7	128205073	missense	probably damaging	1.00
R7303:Itgad	UTSW	7	128190179	missense	probably benign
R7324:Itgad	UTSW	7	128189807	missense	probably damaging	1.00
R7565:Itgad	UTSW	7	128183015	missense	probably damaging	0.98
R7566:Itgad	UTSW	7	128192107	missense	probably benign	0.40
R7930:Itgad	UTSW	7	128183108	missense	probably benign	0.01
R8550:Itgad	UTSW	7	128203892	missense	probably damaging	0.98
R8816:Itgad	UTSW	7	128198370	nonsense	probably null
R8849:Itgad	UTSW	7	128189985	splice site	probably benign
R8952:Itgad	UTSW	7	128190152	missense	probably damaging	1.00
R9345:Itgad	UTSW	7	128189307	missense	probably benign	0.02
R9354:Itgad	UTSW	7	128185974	missense	probably damaging	1.00
RF019:Itgad	UTSW	7	128192208	missense	probably benign	0.08
Z1176:Itgad	UTSW	7	128190087	missense	probably damaging	1.00
Z1177:Itgad	UTSW	7	128189501	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11